A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv16901294



Internal ID1675
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr1:30857202..30857204hg38UCSC Ensembl
chr1:31330049..31330051hg19UCSC Ensembl
Cytoband1p35.2
Allele length
AssemblyAllele length
hg3854
hg1954
Variant TypeCNV insertion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv5540908
Supporting Variants
Samples
Known Genes
MethodSequencing
Analysis
Platform
Comments
ReferenceByrska_Bishop_et_al_2022
Pubmed ID36055201
Accession Number(s)nssv16901294
Frequency
Sample Size3202
Observed Gain1
Observed Loss0
Observed Complex0
Frequency0.001405


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